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

4 papers

NM_000267.3

p.G1737fs

c.5209_5210fs

NM_001042492.3

p.G1758fs

c.5272_5273fs

Surrounding Variants

1 paper

NM_001042492.3

p.G1758C

c.5272G>T

2 papers

NM_000267.3

p.G1737fs

c.5209_5210fs

1 paper

NM_000267.3

p.V1736D

c.5207T>A

1 paper

NM_000267.3

p.V1736G

c.5207T>G

1 paper

NM_000267.3

p.V1736_G1737insFs

c.5208_5209dupTG

1 paper

NM_001042492.3

p.G1758_S1759del2

c.5272_5276del6

1 paper

NM_001042492.3

p.V1757fs

c.5269_5270fs

1 paper

NM_001042492.3

p.V1757fs

c.5269_5270fs

1 paper

NM_001042492.3

p.T1760del1

c.5278_5279delACT

1 paper

NM_000267.3

p.S1738_T1739delFs

c.5213_5216del4

1 paper

NM_001042492.3

p.S1759C

c.5276C>G

3 papers

NM_001042492.3

p.K1756_V1757Splc

c.5269-1G>A