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

2 papers

NM_001042492.3

p.S1407R

c.4221T>A

NM_000267.3

p.S1386R

c.4158T>A

Surrounding Variants

3 papers

NM_001042492.3

p.S1407R

c.4221T>G

NM_000267.3

p.S1386R

c.4158T>G

1 paper

NM_001042492.3

p.S1407Fs

c.4221delinsGGFs

2 papers

NM_001042492.3

p.S1407fs

c.4219_4220fs

2 papers

NM_001042492.3

p.S1407R

c.4219A>C

NM_000267.3

p.S1386R

c.4156A>C

2 papers

NM_000267.3

p.A1387D

c.4160C>A

NM_001042492.3

p.A1408D

c.4223C>A

1 paper

NM_001042492.3

p.A1408_M1409delFs

c.4224_4225delCA

1 paper

NM_001042492.3

p.S1407delFs

c.4219delA

2 papers

NM_000267.3

p.G1385fs

c.4153_4154fs

NM_001042492.3

p.G1406fs

c.4216_4217fs

1 paper

NM_001042492.3

p.G1406*

c.4216G>T

2 papers

NM_000267.3

p.G1385fs

c.4153_4154fs

NM_001042492.3

p.G1406fs

c.4216_4217fs

1 paper

NM_001042492.3

p.M1409T

c.4226T>C

1 paper

NM_000267.3

p.M1388R

c.4163T>G