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

1 paper

NM_000051.4

p.V3028fs

c.9082_9083fs

Surrounding Variants

1 paper

NM_000051.4

p.V3028I

c.9082G>A

2 papers

NM_000051.4

p.S3027R

c.9081T>A

2 papers

NM_000051.4

p.S3027R

c.9081T>G

2 papers

NM_000051.4

p.S3027insFs

c.9080_9081insA

4 papers

NM_000051.4

p.S3027I

c.9080G>T

1 paper

NM_000051.4

p.S3027fs

c.9079_9080fs

2 papers

NM_000051.4

p.S3027R

c.9079A>C

3 papers

NM_000051.4

p.S3027G

c.9079A>G

1 paper

NM_000051.4

p.S3027C

c.9079A>T

2 papers

NM_000051.4

p.S3027fs

c.9079_9080fs

7 papers

NM_000051.4

p.S3027insFs

c.9079dupA

21 papers

NM_000051.4

p.G3029D

c.9086G>A