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.L1975delFs

c.5924_5925delTT

Surrounding Variants

2 papers

NM_001042492.3

p.L1975fs

c.5923_5924fs

2 papers

NM_000267.3

p.L1954P

c.5861T>C

1 paper

NM_001042492.3

p.D1976Y

c.5926G>T

1 paper

NM_000267.3

p.A1952V

c.5855C>T

1 paper

NM_001042492.3

p.K1977*

c.5929A>T

1 paper

NM_001042492.3

p.A1973fs

c.5917_5918fs

1 paper

NM_001042492.3

p.A1973delFs

c.5917delG

1 paper

NM_001042492.3

p.T1972I

c.5915C>T

4 papers

NM_001042492.3

p.T1972fs

c.5914_5915fs

5 papers

NM_000267.3

p.T1951fs

c.5851_5852fs

NM_001042492.3

p.T1972fs

c.5914_5915fs

1 paper

NM_000267.3

p.L1957delFs

c.5870delT

1 paper

NM_000267.3

p.L1957fs

c.5869_5870fs