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.V462D

c.1385T>A

Surrounding Variants

2 papers

NM_000051.4

p.V462A

c.1385T>C

1 paper

NM_000051.4

p.V462G

c.1385T>G

1 paper

NM_000051.4

p.V462I

c.1384G>A

2 papers

NM_000051.4

p.E461D

c.1383A>C

1 paper

NM_000051.4

p.E461D

c.1383A>T

2 papers

NM_000051.4

p.A463T

c.1387G>A

1 paper

NM_000051.4

p.A463P

c.1387G>C

1 paper

NM_000051.4

p.A463S

c.1387G>T

1 paper

NM_000051.4

p.E461A

c.1382A>C

1 paper

NM_000051.4

p.E461G

c.1382A>G

1 paper

NM_000051.4

p.E461V

c.1382A>T

1 paper

NM_000051.4

p.E461_L464delFs

c.1383_1390del8