Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000267.3

p.Q1981H

c.5943G>C

NM_001042492.3

p.Q2002H

c.6006G>C

Surrounding Variants

1 paper

NM_001042492.3

p.Q2002Q

c.6006G>A

2 papers

NM_000267.3

p.Q1981H

c.5943G>T

3 papers

NM_000267.3

p.Q1981_I1982Splc

c.5943+1G>A

NM_001042492.3

p.Q2002_I2003Splc

c.6006+1G>A

3 papers

NM_000267.3

p.Q1981_I1982Splc

c.5943+1G>T

NM_001042492.3

p.Q2002_I2003Splc

c.6006+1G>T

2 papers

NM_000267.3

p.Q1981_I1982insFs

c.5943_5944ins4

1 paper

NM_001042492.3

p.Q2002fs

c.6004_6005fs

8 papers

NM_000267.3

p.Q1981*

c.5941C>T

NM_001042492.3

p.Q2002*

c.6004C>T

1 paper

NM_001042492.3

p.G2001E

c.6002G>A

1 paper

NM_001042492.3

p.G2001V

c.6002G>T

1 paper

NM_001042492.3

p.Q2002_I2003Splc

c.6006+4T>C

5 papers

NM_000267.3

p.G1980R

c.5938G>A

NM_001042492.3

p.G2001R

c.6001G>A

5 papers

NM_000267.3

p.G1980R

c.5938G>C

NM_001042492.3

p.G2001R

c.6001G>C