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

18 papers

NM_000051.4

p.W156*

c.467G>A

Surrounding Variants

1 paper

NM_000051.4

p.W156S

c.467G>C

14 papers

NM_000051.4

p.W156*

c.468G>A

1 paper

NM_000051.4

p.W156C

c.468G>T

1 paper

NM_000051.4

p.W156delFs

c.468delG

1 paper

NM_000051.4

p.W156fs

c.466_467fs

1 paper

NM_000051.4

p.W156delFs

c.467_468delGG

2 papers

NM_000051.4

p.Y155*

c.465C>A

2 papers

NM_000051.4

p.Y155*

c.465C>G

1 paper

NM_000051.4

p.W156_I159del4

c.466_476del12

2 papers

NM_000051.4

p.C157R

c.469T>C

4 papers

NM_000051.4

p.Y155C

c.464A>G

1 paper

NM_000051.4

p.C157F

c.470G>T