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.N1335D

c.4003A>G

Surrounding Variants

1 paper

NM_001042492.3

p.E1334E

c.4002A>G

1 paper

NM_001042492.3

p.N1335S

c.4004A>G

1 paper

NM_001042492.3

p.Q1336delFs

c.4006delC

1 paper

NM_001042492.3

p.Q1336fs

c.4006_4007fs

18 papers

NM_001042492.3

p.Q1336*

c.4006C>T

1 paper

NM_001042492.3

p.E1334K

c.4000G>A

3 papers

NM_001042492.3

p.E1334*

c.4000G>T

1 paper

NM_001042492.3

p.E1334fs

c.4000_4001fs

2 papers

NM_001042492.3

p.Q1336R

c.4007A>G

2 papers

NM_001042492.3

p.E1333G

c.3998A>G

1 paper

NM_001042492.3

p.E1334delFs

c.4000delG

1 paper

NM_001042492.3

p.Q1336Q

c.4008G>A