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.I417_T419delins

c.1250_1256delinsAAGA

Surrounding Variants

1 paper

NM_001042492.3

p.I417fs

c.1249_1250fs

1 paper

NM_001042492.3

p.I417insFs

c.1250_1251insTT

1 paper

NM_001042492.3

p.I417fs

c.1249_1250fs

1 paper

NM_001042492.3

p.I417M

c.1251C>G

1 paper

NM_001042492.3

p.I418delFs

c.1252_1253delAT

1 paper

NM_001042492.3

p.I418V

c.1252A>G

6 papers

NM_001042492.3

p.R416Q

c.1247G>A

1 paper

NM_001042492.3

p.R416P

c.1247G>C

1 paper

NM_001042492.3

p.I417delFs

c.1249delA

1 paper

NM_001042492.3

p.R416G

c.1246C>G

70 papers

NM_001042492.3

p.R416*

c.1246C>T

2 papers

NM_001042492.3

p.T419delFs

c.1255delA