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.D2214G

c.6641A>G

Surrounding Variants

1 paper

NM_000051.4

p.D2214_F2217del0

c.6642_6650del9

1 paper

NM_000051.4

p.S2215delFs

c.6643delA

1 paper

NM_000051.4

p.S2215_D2216delFs

c.6644_6647del4

2 papers

NM_000051.4

p.D2214Y

c.6640G>T

1 paper

NM_000051.4

p.S2215_D2216insG

c.6643_6647ins3

1 paper

NM_000051.4

p.S2215R

c.6643A>C

1 paper

NM_000051.4

p.S2215G

c.6643A>G

1 paper

NM_000051.4

p.D2214delFs

c.6640delG

1 paper

NM_000051.4

p.S2215R

c.6645T>A

1 paper

NM_000051.4

p.S2215R

c.6645T>G

1 paper

NM_000051.4

p.K2213delFs

c.6638delA

1 paper

NM_000051.4

p.D2216H

c.6646G>C