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.L2188V

c.6562C>G

Surrounding Variants

8 papers

NM_000051.4

p.L2188I

c.6562C>A

1 paper

NM_000051.4

p.E2187E

c.6561G>A

1 paper

NM_000051.4

p.E2187V

c.6560A>T

3 papers

NM_000051.4

p.E2187*

c.6559G>T

1 paper

NM_000051.4

p.F2189fs

c.6565_6566fs

1 paper

NM_000051.4

p.F2189S

c.6566T>C

3 papers

NM_000051.4

p.G2186V

c.6557G>T

2 papers

NM_000051.4

p.G2186R

c.6556G>A

2 papers

NM_000051.4

p.G2186R

c.6556G>C

3 papers

NM_000051.4

p.S2190*

c.6569C>A

3 papers

NM_000051.4

p.S2190*

c.6569C>G

2 papers

NM_000051.4

p.G2186_E2187del2

c.6556_6560del6