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.H1316fs

c.3946_3947fs

Surrounding Variants

1 paper

NM_001042492.3

p.H1316Y

c.3946C>T

1 paper

NM_001042492.3

p.H1316delFs

c.3947_3948delAT

2 papers

NM_001042492.3

p.H1316insFs

c.3948dupT

1 paper

NM_001042492.3

p.H1316R

c.3947A>G

3 papers

NM_001042492.3

p.Q1315*

c.3943C>T

1 paper

NM_001042492.3

p.V1317L

c.3949G>C

1 paper

NM_001042492.3

p.V1317fs

c.3949_3950fs

16 papers

NM_001042492.3

p.W1314*

c.3942G>A

1 paper

NM_001042492.3

p.W1314_Q1315delins

c.3942_3943delinsAA

1 paper

NM_001042492.3

p.V1317A

c.3950T>C

1 paper

NM_001042492.3

p.V1317_S1318delFs

c.3951_3954del4

16 papers

NM_001042492.3

p.W1314*

c.3941G>A