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.V341delFs

c.1021delG

Surrounding Variants

2 papers

NM_000051.4

p.A340A

c.1020C>A

3 papers

NM_000051.4

p.A340A

c.1020C>T

2 papers

NM_000051.4

p.A340D

c.1019C>A

1 paper

NM_000051.4

p.A340G

c.1019C>G

1 paper

NM_000051.4

p.A340V

c.1019C>T

11 papers

NM_000051.4

p.V341I

c.1021G>A

1 paper

NM_000051.4

p.V341L

c.1021G>C

2 papers

NM_000051.4

p.V341fs

c.1021_1022fs

1 paper

NM_000051.4

p.A340T

c.1018G>A

1 paper

NM_000051.4

p.A340S

c.1018G>T

1 paper

NM_000051.4

p.V341D

c.1022T>A

1 paper

NM_000051.4

p.V341A

c.1022T>C