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

2 papers

NM_000051.4

p.W57C

c.171G>T

Surrounding Variants

34 papers

NM_000051.4

p.W57*

c.171G>A

1 paper

NM_000051.4

p.W57C

c.171G>C

43 papers

NM_000051.4

p.W57*

c.170G>A

3 papers

NM_000051.4

p.D58N

c.172G>A

1 paper

NM_000051.4

p.D58H

c.172G>C

1 paper

NM_000051.4

p.W57ins3

c.170_171ins9

2 papers

NM_000051.4

p.D58fs

c.172_173fs

6 papers

NM_000051.4

p.D58Y

c.172G>T

1 paper

NM_000051.4

p.W57L

c.170G>T

2 papers

NM_000051.4

p.D58fs

c.172_173fs

1 paper

NM_000051.4

p.D58_A59delFs

c.172_175del4

1 paper

NM_000051.4

p.D58G

c.173A>G