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.A2391_R2392delFs

c.7171_7175del5

Surrounding Variants

1 paper

NM_000051.4

p.A2391T

c.7171G>A

1 paper

NM_000051.4

p.A2391fs

c.7171_7172fs

1 paper

NM_000051.4

p.A2391S

c.7171G>T

1 paper

NM_000051.4

p.A2391A

c.7173C>T

5 papers

NM_000051.4

p.S2389*

c.7166C>A

1 paper

NM_000051.4

p.R2392_F2393ins4

c.7174_7178ins12

5 papers

NM_000051.4

p.S2389*

c.7166C>G

7 papers

NM_000051.4

p.S2389L

c.7166C>T

7 papers

NM_000051.4

p.R2392W

c.7174C>T

1 paper

NM_000051.4

p.R2392delFs

c.7176delG

1 paper

NM_000051.4

p.R2392Q

c.7175G>A

1 paper

NM_000051.4

p.R2392L

c.7175G>T