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

5 papers

NM_000267.3

p.T1951fs

c.5851_5852fs

NM_001042492.3

p.T1972fs

c.5914_5915fs

Surrounding Variants

4 papers

NM_001042492.3

p.T1972fs

c.5914_5915fs

1 paper

NM_001042492.3

p.T1972I

c.5915C>T

5 papers

NM_000267.3

p.T1951insFs

c.5851_5852insA

NM_001042492.3

p.T1972insFs

c.5914_5915insA

1 paper

NM_001042492.3

p.A1973delFs

c.5917delG

1 paper

NM_001042492.3

p.A1973fs

c.5917_5918fs

1 paper

NM_000267.3

p.V1950delFs

c.5850delT

1 paper

NM_001042492.3

p.R1970R

c.5910A>G

1 paper

NM_000267.3

p.A1952V

c.5855C>T

3 papers

NM_001042492.3

p.R1970fs

c.5908_5909fs

3 papers

NM_001042492.3

p.R1970fs

c.5908_5909fs

NM_000267.3

p.R1949fs

c.5845_5846fs

1 paper

NM_000267.3

p.R1949_V1950delFs

c.5847_5848delAG

3 papers

NM_001042492.3

p.Q1969L

c.5906A>T