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

8 papers

NM_000051.4

p.G1788S

c.5362G>A

Surrounding Variants

1 paper

NM_000051.4

p.G1788R

c.5362G>C

1 paper

NM_000051.4

p.G1788fs

c.5362_5363fs

1 paper

NM_000051.4

p.G1788C

c.5362G>T

2 papers

NM_000051.4

p.G1788delFs

c.5363delG

1 paper

NM_000051.4

p.G1788_D1791del4

c.5362_5372del12

1 paper

NM_000051.4

p.G1788D

c.5363G>A

2 papers

NM_000051.4

p.G1788V

c.5363G>T

1 paper

NM_000051.4

p.E1787A

c.5360A>C

1 paper

NM_000051.4

p.E1787_G1788delFs

c.5361_5362delAG

1 paper

NM_000051.4

p.L1789fs

c.5365_5366fs

2 papers

NM_000051.4

p.L1789delFs

c.5366delT

1 paper

NM_000051.4

p.E1787K

c.5359G>A