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

55 papers

NM_000051.4

p.S978P

c.2932T>C

Surrounding Variants

2 papers

NM_000051.4

p.S978A

c.2932T>G

2 papers

NM_000051.4

p.S978fs

c.2932_2933fs

5 papers

NM_000051.4

p.S978Y

c.2933C>A

2 papers

NM_000051.4

p.S978C

c.2933C>G

4 papers

NM_000051.4

p.S978F

c.2933C>T

1 paper

NM_000051.4

p.S978delFs

c.2934delT

2 papers

NM_000051.4

p.C977Y

c.2930G>A

2 papers

NM_000051.4

p.C977S

c.2930G>C

3 papers

NM_000051.4

p.C977F

c.2930G>T

2 papers

NM_000051.4

p.S978S

c.2934T>A

1 paper

NM_000051.4

p.S978S

c.2934T>G

2 papers

NM_000051.4

p.C977S

c.2929T>A