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.S2484fs

c.7450_7451fs

Surrounding Variants

1 paper

NM_001042492.3

p.Y2485insFs

c.7453dupT

1 paper

NM_000267.3

p.P2462fs

c.7384_7385fs

NM_001042492.3

p.P2483fs

c.7447_7448fs

1 paper

NM_001042492.3

p.P2483S

c.7447C>T

1 paper

NM_001042492.3

p.P2483fs

c.7447_7448fs

1 paper

NM_000267.3

p.P2462_R2465delFs

c.7385_7394del10

NM_001042492.3

p.P2483_R2486delFs

c.7448_7457del10

3 papers

NM_001042492.3

p.Y2485fs

c.7453_7454fs

1 paper

NM_001042492.3

p.D2482E

c.7446C>G

1 paper

NM_001042492.3

p.S2484_Y2485delFs

c.7450_7453del4

1 paper

NM_000267.3

p.Y2464*

c.7392T>A

1 paper

NM_000267.3

p.Y2464*

c.7392T>G

1 paper

NM_000267.3

p.R2465delFs

c.7393delA

5 papers

NM_000267.3

p.R2465fs

c.7393_7394fs

NM_001042492.3

p.R2486fs

c.7456_7457fs