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.C1736Y

c.5207G>A

Surrounding Variants

1 paper

NM_000051.4

p.L1737_L1741del0

c.5211_5222del12

1 paper

NM_000051.4

p.T1735T

c.5205C>T

1 paper

NM_000051.4

p.C1736delFs

c.5207_5208delGT

1 paper

NM_000051.4

p.T1735I

c.5204C>T

1 paper

NM_000051.4

p.L1737S

c.5210T>C

2 papers

NM_000051.4

p.L1737W

c.5210T>G

1 paper

NM_000051.4

p.L1737delins

c.5210_5211delinsCT

2 papers

NM_000051.4

p.T1735fs

c.5203_5204fs

1 paper

NM_000051.4

p.T1735A

c.5203A>G

1 paper

NM_000051.4

p.T1735fs

c.5203_5204fs

1 paper

NM_000051.4

p.L1737L

c.5211G>A

2 papers

NM_000051.4

p.L1737F

c.5211G>C