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.L2463_D2465del0

c.7389_7394del6

Surrounding Variants

4 papers

NM_001042492.3

p.L2463delFs

c.7389delT

1 paper

NM_001042492.3

p.T2464insFs

c.7390dupA

1 paper

NM_000267.3

p.T2443_E2448delFs

c.7328_7343del16

NM_001042492.3

p.T2464_E2469delFs

c.7391_7406del16

1 paper

NM_001042492.3

p.T2464_E2469delFs

c.7391_7407del17

1 paper

NM_001042492.3

p.T2464fs

c.7390_7391fs

1 paper

NM_001042492.3

p.T2464delFs

c.7392delT

1 paper

NM_001042492.3

p.L2462fs

c.7384_7385fs

1 paper

NM_001042492.3

p.L2462_L2463delFs

c.7385_7389del5

1 paper

NM_001042492.3

p.L2462_D2465delFs

c.7385_7394del10

1 paper

NM_001042492.3

p.T2464T

c.7392T>A

2 papers

NM_001042492.3

p.D2465_M2468delFs

c.7395_7404del10

3 papers

NM_001042492.3

p.D2465E

c.7395T>A