Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.V1941V

c.5823T>C

Surrounding Variants

2 papers

NM_000051.4

p.A1942T

c.5824G>A

1 paper

NM_000051.4

p.A1942S

c.5824G>T

1 paper

NM_000051.4

p.A1942fs

c.5824_5825fs

1 paper

NM_000051.4

p.V1941G

c.5822T>G

17 papers

NM_000051.4

p.A1942V

c.5825C>T

39 papers

NM_000051.4

p.V1941L

c.5821G>C

1 paper

NM_000051.4

p.V1941insFs

c.5823dupT

2 papers

NM_000051.4

p.V1941F

c.5821G>T

2 papers

NM_000051.4

p.K1943R

c.5828A>G

1 paper

NM_000051.4

p.V1944delFs

c.5830delG

7 papers

NM_000051.4

p.E1940*

c.5818G>T

1 paper

NM_000051.4

p.L1939L

c.5817A>G