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

5 papers

NM_001042492.3

p.S536*

c.1607C>G

Surrounding Variants

5 papers

NM_001042492.3

p.S536*

c.1607C>A

3 papers

NM_001042492.3

p.S536L

c.1607C>T

1 paper

NM_001042492.3

p.S536delFs

c.1608delA

2 papers

NM_001042492.3

p.H537_M538delFs

c.1611_1612delCA

3 papers

NM_001042492.3

p.H537Y

c.1609C>T

1 paper

NM_001042492.3

p.S536_P539del4

c.1606_1616del12

1 paper

NM_001042492.3

p.H537P

c.1610A>C

2 papers

NM_001042492.3

p.Q535R

c.1604A>G

1 paper

NM_001042492.3

p.H537L

c.1610A>T

1 paper

NM_001042492.3

p.H537Q

c.1611C>A

1 paper

NM_001042492.3

p.Q535fs

c.1603_1604fs

1 paper

NM_001042492.3

p.H537Q

c.1611C>G