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.D1371N

c.4111G>A

Surrounding Variants

1 paper

NM_000051.4

p.D1371H

c.4111G>C

2 papers

NM_000051.4

p.D1371fs

c.4111_4112fs

1 paper

NM_000051.4

p.D1371A

c.4112A>C

2 papers

NM_000051.4

p.D1371G

c.4112A>G

2 papers

NM_000051.4

p.G1370Splc

c.4110-1G>A

1 paper

NM_000051.4

p.G1370Splc

c.4110-1G>C

1 paper

NM_000051.4

p.G1370Splc

c.4110-1G>T

1 paper

NM_000051.4

p.D1371insFs

c.4111dupG

2 papers

NM_000051.4

p.G1370Splc

c.4110-2A>C

1 paper

NM_000051.4

p.G1370Splc

c.4110-2A>G

4 papers

NM_000051.4

p.G1370delFs

c.4110delG

2 papers

NM_000051.4

p.L1372V

c.4114T>G