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.V341A

c.1022T>C

Surrounding Variants

1 paper

NM_000051.4

p.V341D

c.1022T>A

1 paper

NM_000051.4

p.V341G

c.1022T>G

1 paper

NM_000051.4

p.K342insFs

c.1024dupA

1 paper

NM_000051.4

p.K342delFs

c.1024delA

33 papers

NM_000051.4

p.E343_N344delFs

c.1027_1030del4

1 paper

NM_000051.4

p.E343_N344delFs

c.1027_1031del5

1 paper

NM_000051.4

p.K342_N344delFs

c.1024_1030del7

1 paper

NM_000051.4

p.K342_L345del4

c.1024_1034del12

11 papers

NM_000051.4

p.V341I

c.1021G>A

1 paper

NM_000051.4

p.V341L

c.1021G>C

2 papers

NM_000051.4

p.V341fs

c.1021_1022fs

3 papers

NM_000051.4

p.K342fs

c.1024_1025fs