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

1 paper

NM_001042492.3

p.S1999T

c.5996G>C

Surrounding Variants

1 paper

NM_001042492.3

p.L2000_G2001del2

c.5998_6002del6

1 paper

NM_001042492.3

p.L2000insFs

c.6000dupT

1 paper

NM_001042492.3

p.G1998R

c.5992G>C

13 papers

NM_001042492.3

p.W1997*

c.5991G>A

NM_000267.3

p.W1976*

c.5928G>A

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

1 paper

NM_001042492.3

p.G2001W

c.6001G>T

1 paper

NM_001042492.3

p.G2001fs

c.6001_6002fs

2 papers

NM_000267.3

p.G1980_Q1981delFs

c.5940_5943del4

NM_001042492.3

p.G2001_Q2002delFs

c.6003_6006del4

14 papers

NM_001042492.3

p.W1997*

c.5990G>A

NM_000267.3

p.W1976*

c.5927G>A

1 paper

NM_001042492.3

p.G2001E

c.6002G>A

1 paper

NM_001042492.3

p.G2001V

c.6002G>T