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.R2832_C2835delFs

c.8495_8505del11

Surrounding Variants

1 paper

NM_000051.4

p.R2832S

c.8494C>A

107 papers

NM_000051.4

p.R2832C

c.8494C>T

1 paper

NM_000051.4

p.R2832fs

c.8494_8495fs

2 papers

NM_000051.4

p.F2831S

c.8492T>C

54 papers

NM_000051.4

p.R2832H

c.8495G>A

1 paper

NM_000051.4

p.R2832P

c.8495G>C

2 papers

NM_000051.4

p.R2832L

c.8495G>T

1 paper

NM_000051.4

p.F2831fs

c.8491_8492fs

1 paper

NM_000051.4

p.F2831_R2832insC

c.8491_8495ins3

2 papers

NM_000051.4

p.Y2833H

c.8497T>C

4 papers

NM_000051.4

p.V2830G

c.8489T>G

1 paper

NM_000051.4

p.Y2833D

c.8497T>G