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_000267.3

p.Q2510delFs

c.7529delA

Surrounding Variants

7 papers

NM_000267.3

p.Q2510*

c.7528C>T

NM_001042492.3

p.Q2531*

c.7591C>T

1 paper

NM_001042492.3

p.Q2531H

c.7593G>C

1 paper

NM_001042492.3

p.Q2531H

c.7593G>T

3 papers

NM_001042492.3

p.A2532T

c.7594G>A

16 papers

NM_000267.3

p.A2511V

c.7532C>T

NM_001042492.3

p.A2532V

c.7595C>T

1 paper

NM_001042492.3

p.P2529H

c.7586C>A

1 paper

NM_001042492.3

p.Q2528Q

c.7584A>G

3 papers

NM_000267.3

p.Q2507*

c.7519C>T

NM_001042492.3

p.Q2528*

c.7582C>T

1 paper

NM_000267.3

p.Q2507fs

c.7519_7520fs

1 paper

NM_001042492.3

p.K2535delFs

c.7603delA

4 papers

NM_001042492.3

p.K2535*

c.7603A>T

1 paper

NM_001042492.3

p.K2535N

c.7605G>C